Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. METHODS: We investigated a Greek HSP family using whole exome sequencing (WES). RESULTS: A novel AP4M1A frameshift insertion, and a...

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Pubblicato in:Orphanet J Rare Dis
Autori principali: Bettencourt, Conceição, Salpietro, Vincenzo, Efthymiou, Stephanie, Chelban, Viorica, Hughes, Deborah, Pittman, Alan M., Federoff, Monica, Bourinaris, Thomas, Spilioti, Martha, Deretzi, Georgia, Kalantzakou, Triantafyllia, Houlden, Henry, Singleton, Andrew B., Xiromerisiou, Georgia
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5669016/
https://ncbi.nlm.nih.gov/pubmed/29096665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0721-2
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